SCN1B sodium voltage-gated channel beta subunit 1

Information
Symbol
SCN1B
Type
protein-coding
Description
sodium voltage-gated channel beta subunit 1
Entrez Gene ID
6324
Genome
hg19
Position
chr19:35,521,374-35,528,624
Genome
hg38
Position
chr19:35,030,470-35,037,720
MIM
600235 OMIM
HGNC
HGNC:10586 HGNC
Ensembl
ENSG00000105711 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 14
Benign 6 134
Likely benign 0 338
Conflicting classifications of pathogenicity 0 100
Uncertain significance 0 580
Ranking
ClinVar
0
0
354
662
14
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ATFB13
SYNONYM BRGDA5
SYNONYM DEE52
SYNONYM EIEE52
SYNONYM GEFSP1
MIM 600235 OMIM
HGNC HGNC:10586 HGNC
Ensembl ENSG00000105711 Ensembl
AllianceGenome HGNC:10586
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000415950.5 hg38 chr19 35,030,470 35,037,720 7,251
ENST00000638536.1 hg38 chr19 35,030,626 35,040,449 9,824
ENST00000595652.5 hg38 chr19 35,030,733 35,040,073 9,341
ENST00000675741.1 hg38 chr19 35,032,317 35,040,449 8,133
ENST00000262631.11 hg38 chr19 35,030,470 35,040,449 9,980
ENST00000640135.1 hg38 chr19 35,031,301 35,037,697 6,397
ENST00000596348.2 hg38 chr19 35,031,353 35,039,922 8,570
ENST00000415950.5 hg19 chr19 35,521,374 35,528,624 7,251
ENST00000262631.11 hg19 chr19 35,521,374 35,531,353 9,980
ENST00000638536.1 hg19 chr19 35,521,530 35,531,353 9,824
ENST00000595652.5 hg19 chr19 35,521,637 35,530,977 9,341
ENST00000640135.1 hg19 chr19 35,522,205 35,528,601 6,397
ENST00000596348.2 hg19 chr19 35,522,257 35,530,826 8,570
ENST00000675741.1 hg19 chr19 35,523,221 35,531,353 8,133
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